Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577578G>T , CM000679.2:g.35577578G>T | GRCh38 |
| NC_000017.10:g.33904597G>T , CM000679.1:g.33904597G>T | GRCh37 |
| NC_000017.9:g.30928710G>T | NCBI36 |
| NG_008447.1:g.6060C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000286.3:c.140C>A MANE Select | NP_000277.1:p.Ser47Ter |
| ENST00000225873.9:c.140C>A MANE Select | ENSP00000225873.3:p.Ser47Ter |
| NM_000286.2:c.140C>A | NP_000277.1:p.Ser47Ter |
| ENST00000225873.8:c.140C>A | ENSP00000225873.3:p.Ser47Ter |
| ENST00000585380.1:c.140C>A | ENSP00000466280.1:p.Ser47Ter |
| ENST00000586663.1:c.140C>A | ENSP00000466894.1:p.Ser47Ter |
| ENST00000586663.2:c.140C>A | ENSP00000466894.2:p.Ser47Ter |
| ENST00000613219.4:c.140C>A | ENSP00000482609.1:p.Ser47Ter |